Can't decide whether to have tests!

[ThePartyArtist]

I'm 9 wks pregnant and my DH and I can't decide whether to have the antenatal test for Down's Syndrome.

We know very little about Down's Syndrome or what the reality of caring for a child with the condition would be. Therefore although this is a much-wanted baby, I suppose we are slightly under equipped to know what our opinion on potential termination would be.

We both feel reluctant to do anything that risks a miscarriage, unless it's really important for my / the baby's health.

On the one hand, we feel that there are so many conditions you have no way of screening for, so why should Down's Syndrome be the exception? We are slightly uncomfortable with the eugenics connotations of it.

However on the other hand we feel that as science allows you to know, maybe we should take the offer of the test.

We have discussed getting the first test and deciding from that whether it's worth doing the second. Apparently there is a 95% chance the first would come back as 'low' so it's unlikely we'd need to make the decision about the second bit. However I am unsure whether to even get the first test - since a 'high' result could be anything from 1 in 2 to 1 in 150, and where do you draw the line about whether to get the second test? Is it better to say you just wouldn't get any of them.

I know no one can provide a definitive answer but please could you talk me through your decisions on it to help me think it through?

Hi,

I decided to opt out (although the hospital cocked up and I ended up having it against my will but I sincerely hope that is very unusual indeed!)

I don't see having a baby with DS as a catastrophe and I really applaud your willingness to find out more about what DS is rather than proceeding with screening because it is available.

My thoughts were as follows....

There is part of me would like to know before birth if my baby had DS or another disability so I could psychologically prepare myself.

However... The initial screening test is not very accurate with a lot of false positives. 1 in 20 people get a high risk result and of these the vast majority will have a healthy baby without DS or other chromosomal abnormalities. Look at the threads below and the tremendous anxiety it causes people. I didn't want take the risk of going through that.

The only way to know for certain is to have a more invasive diagnostic test (amino or cvs) but they carry a small (1% or less) risk of miscarriage. In my view miscarriage is a catastrophic event and not one I would be prepared to take. I have given up all alcohol, soft cheeses, suffered my way through horrible hayfever without anti-histamines and am doing all I can to have a healthy pregnancy. I am not about to take even a tiny risk of causing a miscarriage so these tests are not for me.

I am uncomfortable with the screening as we are now as a society terminating the lives of many people with DS before they are born. People with DS have full lives and enjoy their lives. I very much doubt the screening industry have ever consulted with people with DS about pre-natal screening and they won't - as it would be audacious to ask them "do you think you should have been born"? So I am very uncomfortable with that aspect of screening.

I have to say watching Karen Gaffney's ted talk on YouTube sealed the deal for me!

I figured that if my baby did have DS I would love him/her and he/she would love me and their dad too. We would do all we could to give ou child a full and happy life and DS would not alter that. What else matters?

Saying no can be empowering! Make the decision that's right for you.

Congratulations and wish you a happy and healthy pregnancy!

R

Whereabouts in the UK are you based OP? NHS England now screen for Edwards' and Patau's syndromes at the same time as Down's syndrome (or so their website states - I'm based inScotland so this is no use to me!) Edwards' and Patau syndromes have extremely poor prognoses: most babies sadly die before birth, or shortly afterwards. So you may want to consider whether you'd want to be screened for these conditions, if not Down's, as most people would decide to terminate in these circumstances. Even if you wouldn't consider terminating for these trisonomies, you might want to consider being screened: there's a thread on this board by disillusionedanarchist who chose to continue her pregnancy under these circumstances, and used the knowledge to lobby for the best birth plan and treatment for her baby.

Whatever you decide, I'd always recommend at least finding out if there are any anomalies at the scan - a raised NT score can indicate a potential range of issues, of varying degrees of severity. I went into my first pregnancy naively just thinking about what I do if the baby had Down's syndrome, only to discover that my baby had a different condition, and a much worse prognosis. I hadn't prepared for that.

A couple of other thoughts: the given miscarriage rate for CVS and amnio is probably misleading, as these statistics date from the 1980s when these procedures were undertaken without being guided by ultrasound (so more risk of things going wrong). Also, it's been recently recognised that the natural miscarriage rate in the second trimester is higher than previously thought. Add in the consideration that a number of CVS and amnio procedures are undertaken when the baby is very sick indeed, and it looks like some miscarriages are probably wrongly attributed to these procedures, when they would have occurred anyway.

Finally, there is a risk-free way to get a much more accurate calculation of the risk of your baby having the above three trisonomies, and other sex chromosome anomalies such as Turner's syndrome, which usually results in miscarriage / birth - that's the harmony test (or variants such as serenity) - these rely on a sample of maternal blood, from which the baby's DNA is extracted and evaluated. Unfortunately, it's not yet available on the NHS, but if you came back with a high risk screening you might want to consider it in lieu of a CVS of amnio. It's in the region of £400-450.

Hi, I'm 16w and declined all the screenings. Both my husband and I felt that a Down's diagnosis would not change our feelings about the baby and we would not be willing to have further invasive tests or terminate. We understand that some trisomy diagnosis would result in a short life or not making it to term, but we have waited so long for this baby that we believe whatever happens, this is the baby we were meant to have.

The hospital and midwives cannot force the tests on you, so if you don't want them, just stand your ground and explain your reasons. Our midwives and sonographer have been very supportive of our decision. Suprisingly only 15% of women decline the screening. I expected it to be higher.

Good luck with your pregnancy :)

Arc have a great charity explaining the antenatal testing process.

I won't comment on having the tests or not, however, you should know that the combined tests don't just screen for Down's syndrome (t21) but also pateu and edwards (t13 and t18) both of which are medically 'incompatible with life' as in babies are generally still born, don't survive labour or have very limited lives (hours-months depending on severity.)

The benefit of the screening is not necessarily to give you the option of a termination but also the option of a care plan in place if the screening come back positive. If you did get a positive screen for any trisomy and decided to continue your pregnancy then it gives you, and medical teams, the options of extra specialised scans in pregnancy and a plan in place for birth. For example heart defects are common in trisomies and babies may need addional support or surgery soon after birth.

I absolutely respect anyone's decision to have tests or not but many see the screening as a 'I wouldn't terminate anyway so there's no point' and sometimes don't consider the information that is of benefit to all with a positive screening.

I say this as someone who had all the screening tests and had a termination for medical reasons after dd2 was diagnosed with T18 at our 20 week scan.

Also bear in mind that even if you don't have the screening then possible defects can be picked up at the anomoly scan if there is an issue.

Hi op. I'd only have screening/ cvs/ amnio if I 100% didn't want a baby with DS. I can't see the point in putting yourself through the stress of these tests if you wouldn't terminate anyway?

It's not just about terminating it's about being prepared for caring for a child with DS. Getting relevant support in place. Scans for gut and heart issues.

I think knowledge is power, so go for it. The nuchal/combined tests should at least give an idea of the likelihood of Down's. A high 'risk' result doesn't have to mean an amnio follow up and it doesn't have to mean termination (unless you decide that's the right option for you). Down's syndrome is really not the end of the world. Admittedly, my experience is limited and I have doubtless many hurdles to overcome in the years to come, but my 11 month old has Down's syndrome and is the most wonderful little girl ever. She has no heart or bowel problems, isn't running too far behind her NCT peers (currently on the cusp of crawling) and just melts us with her smile and giggles! Also, don't overplay the significance of the tests. For what it's worth, I did undergo the nuchal test and blood test. I got a 1 in 1900 chance of DS. I just happened to be that 1. And you know what, I wouldn't change anything.

Your daughter is so cute curlie.

I agree, knowledge is power. Only you can decide what to do with the knowledge but at least you can make an informed choice.

Someone has to be that '1'. We were.

I had the testing in my last pregnancy where DD was diagnosed with T18 (Edwards syndrome) though this was not detected at the 12 week screening only at the 20 week scan and again in this pregnancy when it was low risk enough that we decided against any further testing.

Advantages of the screening tests

• all three trisomies carry a high risk of miscarriage, stillbirth and intrapartum death (including T21 which is often not considered) identifying them means you can get decent pregnancy monitoring in place to reduce these risks
• if your child has trisomy 18 or trisomy 13, you will be denied treatment in the UK (and most of the world). They will not provide intensive neonatal care, needed surgeries etc. This may be okay with you. It wasn't with me. Treatment improves survival to a year and probably longer. Prenatal diagnosis gives you the chance to get a plan in place which is often a very difficult fight.

-Being prepared meant we welcomed our daughter into the world with joy, the photos of her birth are wonderful, we weren't in shock, disorientated or struggling to adjust to a disability we hadn't anticipated

Disadvantages of screening
-if you get a high risk result, your next option is further testing. The only way to confirm the presence of these conditions is to opt for invasive testing which definitely carries a small risk of pregnancy loss, though how small is debatable, more recent studies suggest negligible but the NHS will quote 1%. You could instead opt for NIPT but it is not definitive, I know of several false negatives on NIPT and one positive.
-If your baby has trisomy 18 or trisomy 13 and you wouldn't terminate and would want treatment, you could be looking at a court decision and months of fighting and maybe losing. if you didn't know, then your child would get immediate at birth treatment and that may be enough to ensure survival.
-Some people are very much of the what will be, will be persuasion, I think if that is your style then screening doesn't really offer much except anxiety.

I agree knowledge is power but I know a lot of people don't think that way. I also do think it is important to remember that screening isn't only for T21 (Down syndrome). Down syndrome would have been a wonderful outcome for us, we hoped for it. Trisomy 18 and trisomy 13 are far more significant, severely life shortening conditions (though the stats are skewed because of failure to treat). I know of a number of adults in their 20's and 30's with T18 but they are statistically rare. A high number of infants are lost in pregnancy, most die within the first year. Those who survive to a year do better and the majority of those will reach their fifth birthday but there is another spike of deaths between five and ten years.

I have walked in the worst shoes you can wish for. Anyone who makes comments about what is right and wrong without having worn those shoes is well words I won't put here.
What I would advise is knowledge and information to make informative and educated decisions. God forbid the results are bad but if they are there are fantastic charities out there which can inform.
Good luck with your decisions

I also wholeheartedly agree that knowledge is power. I found out early on that my girl had DS and a heart condition.

Termination isn't for me, (although i dont judge ) we used the time to prepare ourselves. We told everyone and anyone. I did research, joined groups, and made new friends.
By the time she was born it was all a bit old hat. We were as prepared as we could be and had fully come to terms with the situation.

I can't imagine having the news broken to us at birth, tired, hormonal, having to handle the shock, the relatives, tring to take it all in.
My daughter is an absolute hero, and I wouldn't change her for the world.
My advice to you is to take the tests, then depending on the results, do your research, do as I did, speak to parents, network, ask questions, and then make an informed decision.

Just wanted to add that although the initial screening looks at all three trisonomies mentioned, I chose not to have the DS results but only to have trisomy 18 and trisomy 13 results. You can ask for it to be presented in this way if you choose. So in my letter, DS probability wasn't mentioned but I was given the estimated odds for Edwards' and Patau syndrome. Just wanted to flag this as an available option. I make no judgement towards anyone for their own choices, but this was what I decided was most helpful for me.

GirlwithaPearlNecklace - yes, having the news broken just after the birth was pretty brutal really. DD was born at 4am, we were wheeled into the postnatal wards (given a side room - we were told all the shared wards were full, but I think that may have been a white lie) and then around 9am a consultant paediatrician came in, and asked us if we'd noticed anything about our daughter. We said no, and he said they suspected she had trisomy 21 and started to reel out all the 'dysmorphic' features of our beautiful daughter that had led them to this suspicion, and the potential accompanying medical problems. He was really unsympathetic and didn't have a great bedside manner. We were totally in shock, as we'd been so low risk, and my poor DH fell to pieces that day. That's why the Down's Syndrome Association's Tell it Right, Start it Right campaign is so important. We weren't and it was shit....

It's clearly a personal choice, as this thread demonstrates.

I opted for the screening tests. If they had come back "high risk" I would have done more research into the risks of amnio/CVS and if I decided they were too high I would have paid for NIPT.

My reasons for this were:

• There was a good chance of getting a low risk result which means less worry for the rest of the pregnancy (although I understand an abnormality is still possible with a low risk result, it's rare)

• If an abnormality was found we could have made an informed decision about what to do next. I would not terminate for Down's but I would want to know so I could find out more about the condition and be prepared before the baby arrived. If it was Edward's, Patau's or another condition that was "incompatible with life", I would have seriously considered termination. It can't be an easy decision but I would prefer to make it myself rather than leave it up to fate. And if I decided to continue with the pregnancy I could prepare mentally and practically for the next steps, including making sure I had a care plan in place that I was happy with.

Ha! I'm not sure I'm ever going to get 'less worry for the rest of [a] pregnancy', even if results were to come back 'low chance' (which they won't now, because of DD)! So, somewhat hypocritically, given I feel very ambivalent about the idea of NIPT coming onto the NHS (see the Don't Screen Us Out campaign's concerns), I think I would take NIPT if offered (or maybe even pay for it), as I wouldn't want to do amnio/cvs, but also wouldn't want 8 months of uncertainty....

Well if you're determined to worry you'll always find something to worry about

If you are thinking about having the screening tests and possible diagnostic tests further down the line, look into the risks of amniocentesis before ruling it out completely. The PP who said that the commonly quoted stats are based on outdated research is correct. On the ARC website it says the risk of miscarriage after amnio is 1/150 (0.6666%), unfortunately they don't reference the source and I would want to check that, but that figure is low enough for me to be comfortable with.

These threads always seem to attract people who declined the tests, and I respect that, but I think they are probably in the minority. It just makes me uncomfortable to see so many posts saying "I declined because I wouldn't act on the results" in case it makes a pregnant woman feel guilty for wanting them.

The way I see it, as a PP said, knowledge is power. I can't envisage a situation in which not knowing is better than being well informed.

I didn't have any screenings with my Dd (born last year). In my hospital when I had her, you either tested for Downs, Edwards and Pataus syndromes, or you didn't test for anything. So we chose not to test. But with this pregnancy, I was able to choose which screenings (if any) I wanted to have. So this time we chose to screen for Edwards and Patau syndromes but not for Downs.

Posted too soon.
Do you know if your hospital allow you to choose specific screenings or if they just offer them all as one?

Have a look op at the Down's syndrome association website loads of useful stuff on there. The good and the bad because it's important to have.m balanced view. Is there something in particular you want to know about DS OP?

Statistically, the risk of miscarriage caused by amniocentesis is about 1:150 or so. The risk of contracting a serious infection from an amnio is even less at less than 1:1000. Unfortunately, I was that one. I lost a healthy baby and spent a week in hospital on an antibiotic drip.

With my last pregnancy, I had the screening tests done and was considering following up with the harmony test depending on how high the result was. Luckily my risk came out as well below the cut off so I didn't follow up and was reassured by the good screening result.

nenny Sorry for your loss

If you are interested in NIPT just double-check if it's available in your area on the NHS. It is being rolled out I think (I was involved in the early studies that looked at how it should be introduced to the NHS). But also double check if they would test for the other trisomies as well, if you want to know about those.

Thanks, namechange30.